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| Likely inborn error of metabolism - targeted testing not possible v1.47 | COG4 |
Ivone Leong Source NHS GMS was added to COG4. Source London North GLH was added to COG4. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | COG4 |
Ellen McDonagh Added phenotypes Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIj 613489 for gene: COG4 Publications for gene COG4 were changed from 27604308 to 19651599; 21185756; 19494034; 11980916 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | COG4 |
Ellen McDonagh gene: COG4 was added gene: COG4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG4 were set to 27604308 Phenotypes for gene: COG4 were set to Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency); Congenital disorder of glycosylation, type IIj 613489 |
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